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A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and High Proportion of Affected Individuals
BACKGROUND: Congenital hypothyroidism (CH) is a common endocrine disorder in newborns. The cause of CH is thyroid dysgenesis in 80%–85% of patients. Paired box gene 8 (PAX8) is a thyroid transcription factor that plays an important role in thyroid organogenesis and development. To date 22 different...
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| Publicado no: | Horm Res Paediatr |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5061635/ https://ncbi.nlm.nih.gov/pubmed/27207603 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000445891 |
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